Understanding the progression of Spinocerebellar Ataxia Type 7

Natural History of Spinocerebellar Ataxia Type 7 (SCA7)

This study is trying to learn more about how Spinocerebellar Ataxia Type 7 affects people by following participants over five years to see how it impacts their vision and coordination.

Quick facts

• Study type: Observational
• Enrollment: 25 (estimated)
• Ages: 12 Years to 100 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT02741440 on ClinicalTrials.gov

What this trial studies

This observational study aims to gather detailed information about Spinocerebellar Ataxia Type 7 (SCA7), a neurodegenerative disease caused by mutations in the ATXN7 gene. Participants aged 12 and older with molecularly-confirmed SCA7 will undergo a series of medical and ophthalmic evaluations over a period of at least five years. The study will include assessments such as eye examinations, neuroimaging, and neurological evaluations to track the disease's progression and its effects on vision and coordination. The data collected will help establish clinical outcome measures and create a repository of biological samples for future research.

Who should consider this trial

Good fit: Ideal candidates are individuals aged 12 and older with molecularly-confirmed SCA7.

Not a fit: Patients without a confirmed diagnosis of SCA7 or those unable to cooperate with testing may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of SCA7 and pave the way for future treatments.

How similar studies have performed: While this study focuses on the natural history of SCA7, similar observational studies have successfully advanced understanding of other neurodegenerative diseases.

Eligibility criteria

* INCLUSION CRITERIA:

To be eligible, the following inclusion criteria must be met, where applicable.

1. Participant must be 12 years of age or older.
2. Participant must be able to understand and sign the protocol s informed consent document on their own behalf OR, in the case of a minor, have a legal guardian/parent with the ability to do the same.
3. Participant must be able to produce a recordable electroretinogram (ERG).
4. Participant must have the ability to cooperate the required testing. Participants unable to cooperate with one or more tests may be included only at the discretion of the Principal Investigator.
5. Participant must be willing and able to provide a blood sample.
6. Any female participant of childbearing potential must agree to have pregnancy testing prior to undergoing MRI.
7. Participant has molecularly-confirmed, symptomatic SCA7, as defined by CAG repeat expansion in the ATXN7 gene of greater than 35 repeats. Accrual will be biased towards those with lower numbers of abnormal repeats (above 35 repeats) as they are most likely to be able to cooperate with testing. Participants who have clinical findings consistent with SCA7 and a relative who has had molecular diagnosis, may be included in the study with subsequent confirmation of the number of repeats. Patients who have clinical findings consistent with SCA7, but no molecular diagnosis may be evaluated under an NEI screening, genetics bank, or evaluation and treatment protocol with subsequent molecular diagnosis performed within six months of their initial visit.

EXCLUSION CRITERIA:

A participant is not eligible if any of the following exclusion criteria are present.

1. Participant is unable to cooperate with ophthalmic/neurologic testing, including inability to undergo brain MRI without sedation.
2. Participant has comorbidity, unrelated to ocular pathology, compromising the ability to view/image the retina and/or record an ERG.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: Laryssa A Huryn, M.D. — National Eye Institute (NEI)
• Study coordinator: Ines E Espinal-Supp

Conditions Spinocerebellar Ataxia; Natural History